keyword
MENU ▼
Read by QxMD icon Read
search

Congenital cataract

keyword
https://www.readbyqxmd.com/read/29782825/characterization-of-an-n-terminal-mutant-of-%C3%AE-a-crystallin-%C3%AE-a-r21q-associated-with-congenital-cataract
#1
Ashutosh S Phadte, Puttur Santhoshkumar, K Krishna Sharma
Several mutations associated with congenital cataracts in human beings target conserved arginine residues in αA-crystallin. The N-terminal region of αA-crystallin is a "mutational hotspot," with multiple cataract-related mutations reported in this region. Two mutations at arginine 21 in the N-terminal domain of αA-crystallin - αA-R21L and αA-R21W have been associated with congenital cataract. A third mutant of R21, αA-R21Q, was recently identified to be associated with congenital cataract in a South Australian family...
May 18, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#2
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#3
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29780932/case-series-pyramidal-cataracts-intact-irides-and-nystagmus-from-three-novel-pax6-mutations
#4
Bharesh K Chauhan, Anagha Medsinge, Matthew P Baumgartner, Hannah L Scanga, Smaragda Kamakari, Eva Gajdosova, Carlos J Camacho, Ken K Nischal
Purpose: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. Observations: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in PAX6 - c.128C > T; p...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29765779/effect-of-timing-of-initial-cataract-surgery-compliance-to-amblyopia-therapy-on-outcomes-of-secondary-intraocular-lens-implantation-in-chinese-children-a-retrospective-case-series
#5
Liuyang Li, Yan Wang, Caihong Xue
Purpose: As a secondary analysis, we reassess the association of initial congenital cataract surgery times, compliance to amblyopia therapy, and visual outcomes for a long-term follow-up in a secondary IOL implantation. Methods: Retrospective review of records of all infants with congenital cataracts who underwent secondary IOL implantation in the Eye and ENT Hospital of Fudan University from January 1, 2001, to December 31, 2007, and the minimum follow-up period was 5 years...
2018: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29748945/causes-of-low-vision-and-blindness-in-a-turkish-adult-population-the-izmir-eye-study
#6
Feray Koç, Veysi Erden, Nazife Sefi-Yurdakul
Background: Data from Turkey show that sense organ diseases were the second leading cause of years lost due to disability in 2015. However, there are no reliable data on either the baseline causative disorders of visual impairment or the burden of these disorders on the population in Izmir region. Izmir is the third most populated city of Turkey with a population of approximately 4.2 million. Aim: The purpose of this study was to define the baseline disorders causing low vision and blindness in accordance with World Health Organization criteria in an adult population in Izmir...
May 3, 2018: Eastern Mediterranean Health Journal, la Revue de Santé de la Méditerranée Orientale
https://www.readbyqxmd.com/read/29747358/-the-causative-diseases-common-comorbidities-and-surgical-procedures-of-948-cases-of-horizontal-sensory-strabismus
#7
L Yin, X Chen
Objective: To investigate the common causes, onset age of vision impairment and complications of sensory strabismus, and to explore the effective surgical methods for sensory strabismus and associated complications. Methods: In this retrospective study, there were 948 cases of surgical treatment for sensory strabismus from 2005 to 2015 in Tianjin Eye Hospital, including 822 cases of sensory exotropia and 126 cases of sensory esotropia. Causative disease, onset age of vision impairment, eye movement, horizontal and vertical deviation and surgical methods were evaluated...
April 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29705173/ultrasonographic-prenatal-imaging-of-fetal-ocular-and-orbital-abnormalities
#8
REVIEW
Courtney L Ondeck, Dolores Pretorius, Jill McCaulley, Michael Kinori, Theresa Maloney Rdms, Andrew Hull, Shira L Robbins
Technological progress in medicine has provided earlier diagnosis, even in the prenatal period. We address ultrasonographic imaging of the prenatal eye and orbit. During development of these structures, multiple pathologies and diseases can arise. Orbital anomalies can be detected prenatally using ultrasound or MRI. Some of these include congenital cataracts, hypertelorism, hypotelorism, dacryocystocele, microphthalmia, anophthalmia, orbital tumors/masses, and septo-optic dysplasia. We describe characteristic ultrasound findings of these diseases...
April 26, 2018: Survey of Ophthalmology
https://www.readbyqxmd.com/read/29698814/ocular-abnormalities-in-congenital-zika-syndrome-are-the-ophthalmoscopic-findings-the-top-of-the-iceberg
#9
REVIEW
João Rafael de Oliveira Dias, Camila V Ventura, Bruno de Paula Freitas, Juliana Prazeres, Liana O Ventura, Vasco Bravo-Filho, Tomas Aleman, Albert Icksang Ko, Andréa Zin, Rubens Belfort, Mauricio Maia
Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. In March 2015, the first cases of ZIKV acute infection were notified in Brazil and, to date, 48 countries and territories in the Americas have confirmed local mosquito-borne transmission of ZIKV...
April 23, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29695758/identification-of-a-novel-mip-frameshift-mutation-associated-with-congenital-cataract-in-a-chinese-family-by-whole-exome-sequencing-and-functional-analysis
#10
Xigui Long, Yanru Huang, Hu Tan, Zhuo Li, Rui Zhang, Siyuan Linpeng, Weigang Lv, Yingxi Cao, Haoxian Li, Desheng Liang, Lingqian Wu
PURPOSE: To detect the underlying pathogenesis of congenital cataract in a four-generation Chinese family. METHODS: Whole-exome sequencing (WES) of family members (III:4, IV:4, and IV:6) was performed. Sanger sequencing and bioinformatics analysis were subsequently conducted. Full-length WT-MIP or K228fs-MIP fused to HA markers at the N-terminal was transfected into HeLa cells. Next, quantitative real-time PCR, western blotting and immunofluorescence confocal laser scanning were performed...
April 26, 2018: Eye
https://www.readbyqxmd.com/read/29692399/evaluating-the-association-of-bone-morphogenetic-protein-4-v152a-and-six-homeobox-6-h141n-polymorphisms-with-congenital-cataract-and-microphthalmia-in-western-indian-population
#11
N G Vidya, A R Vasavada, S Rajkumar
Background: Congenital cataract and microphthalmia are highly heterogeneous congenital eye disorders that affect normal vision. Although mutation in several genes has been shown to cause congenital cataract and microphthalmia, genetic studies associating single-nucleotide polymorphisms with these conditions is scarce. Hence, the present study aims to investigate the association of bone morphogenetic protein 4 (BMP4)-V152A (rs17563), and SIX homeobox 6 (SIX6)-H141N (rs33912345) polymorphisms with congenital cataract and microphthalmia in Western Indian cohorts...
April 2018: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/29682452/extending-the-phenotypic-spectrum-of-sengers-syndrome-congenital-lactic-acidosis-with-synthetic-liver-dysfunction
#12
David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis, with evidence of both chorioamnionitis and cardiogenic shock. Initial metabolic labs demonstrated a severe lactic acidosis prompting genetic testing which revealed a homozygous pathogenic variant for Sengers syndrome in AGK, c.979A >  T; p...
April 13, 2018: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29677338/evidence-of-a-retinotopic-organization-of-early-visual-cortex-but-impaired-extrastriate-processing-in-sight-recovery-individuals
#13
Suddha Sourav, Davide Bottari, Ramesh Kekunnaya, Brigitte Röder
Numerous studies in visually deprived nonhuman animals have demonstrated sensitive periods for the functional development of the early visual cortex. However, in humans it is yet unknown which visual areas are shaped to which degree based on visual experience. The present study investigated the functional organization and processing capacities of early visual cortex in sight recovery individuals with either a history of congenital cataracts (CC) or late onset cataracts (developmental cataracts, DC). Visual event-related potentials (VERPs) were recorded to grating stimuli which were flashed in one of the four quadrants of the visual field...
March 1, 2018: Journal of Vision
https://www.readbyqxmd.com/read/29676319/wreath-like-congenital-cataract-and-tetralogy-of-fallot
#14
Parul Chawla Gupta, Ankur Gupta, Jagat Ram
No abstract text is available yet for this article.
May 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29676310/comparative-analysis-of-non-absorbable-10-0-nylon-sutures-with-absorbable-10-0-vicryl-sutures-in-pediatric-cataract-surgery
#15
Jyoti Matalia, Pratibha Panmand, Pooja Ghalla
Purpose: The purpose of the study is to compare the efficiency as well as the rate and type of suture-related complications between 10-0 monofilament nylon (Aurolab Nylon Sutures, double arm, Aurolab) and 10-0 polyglactin 910 sutures (Vicryl, single arm, Aurolab) for pediatric cataract surgery. Methods: It is a prospective, comparative study performed in children who underwent surgery for congenital or developmental cataract from March 2013 to February 2016. Patients underwent suturing with either nylon or Vicryl in unilateral cases, but in most bilateral surgeries, one eye received Vicryl sutures while the other eye received nylon...
May 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29675390/childhood-glaucoma-profile-in-dakahelia-egypt-a-retrospective-study
#16
Tharwat H Mokbel, Eman M El Hefney, Sherein M Hagras, Ahmed A ALNagdy, Amani E Badawi, Manal A Kasem, Shereen M El Shaer
AIM: To analyze childhood glaucoma regarding its demographics, presentations, different causes and surgical modalities used among patients in Dakahelia and to apply the Childhood Glaucoma Research Network (CGRN) classification retrospectively to evaluate its convenience. METHODS: A retrospective study in which the medical files of all glaucoma patients <16 years old presented to Mansoura Ophthalmic Center, Mansoura University from 2014 to 2017, were retrieved and analyzed...
2018: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29675379/photorefractive-keratectomy-after-cataract-surgery-in-uncommon-cases-long-term-results
#17
Anna Maria Roszkowska, Mario Urso, Giuseppe Alberto Signorino, Leopoldo Spadea, Pasquale Aragona
AIM: To evaluate the efficacy and safety of the excimer laser correction of the residual refractive errors after cataract extraction with intraocular lens (IOL) implantation in uncommon cases. METHODS: Totally 24 patients with high residual refractive error after cataract surgery with IOL implantation were examined. Twenty-two patients had a history of phacoemulsification and IOL implantation, and two had extra-capsular cataract extraction with IOL implantation...
2018: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29675078/novel-rab3gap1-mutations-causing-warburg-micro-syndrome-in-two-italian-sisters
#18
Pasquale Loiudice, Debora Napoli, Maria Cristina Ragone, Marco Nardi, Giamberto Casini
This report details two novel RAB3GAP1 mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our department for the assessment of congenital bilateral cataracts. They also presented with microphthalmia, postnatal microcephaly, severe developmental delay, and hypotony. Perinatal investigations were negative for any toxins or infectious diseases during pregnancy, including toxoplasmosis, rubella, cytomegalovirus, and herpes virus...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29652984/-analysis-of-disease-causing-gene-mutation-in-three-chinese-families-with-congenital-inherited-cataract
#19
Chengxia Ma, Guangying Zheng, Lili Hao
OBJECTIVE: To identify the disease-causing gene mutations in three Chinese pedigrees affected with congenital inherited cataract, in ordre to provide genetic counseling and prenatal diagnosis. METHODS: Using exons combined target region capture sequencing chip to screen the candidate disease-causing mutations, Sanger sequencing was used to confirm the disease-causing mutations. RESULTS: Family 1 was polymorphic cataract, family 2 was cerulean cataract, family 3 was coralliform cataract...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29620728/improving-outcomes-in-congenital-cataract
#20
Ameenat Lola Solebo, Christopher J Hammond, Jugnoo S Rahi
No abstract text is available yet for this article.
April 4, 2018: Nature
keyword
keyword
46385
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"